| At a glance | Chronic reversible airway inflammation with episodic bronchoconstriction. | Autosomal recessive CFTR dysfunction causing thick secretions, lung disease, and pancreatic insufficiency. |
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| Classic presentation | Wheezing that improves with short-acting beta-agonist; nocturnal cough; symptom relief between episodes.; Episodic wheeze, cough (often nocturnal), chest tightness, dyspnea; Triggered by allergens, exercise, cold air, viral URIs, NSAIDs, beta-blockers, emotional stress; Diurnal variation: worse at night and early morning; Expiratory… | Neonatal: meconium ileus (10-20%), failure to thrive, prolonged jaundice; Pulmonary: chronic productive cough, recurrent pneumonia, sinusitis, nasal polyps, wheeze, exercise intolerance, hemoptysis, clubbing; GI: bulky greasy foul-smelling stools, malabsorption (fat-soluble vitamin deficiencies A, D, E, K), distal intestinal obstruction… |
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| Workup / key labs | GINA: history of variable respiratory symptoms + confirmed variable expiratory airflow limitation (bronchodilator reversibility, methacholine positivity, or PEF variability).; CBC (eosinophilia supports allergic phenotype); Total IgE and allergen-specific IgE if considering biologics or ABPA; FeNO (fractional exhaled nitric oxide) —… | CF Foundation 2017: clinical features OR positive newborn screen OR sibling history PLUS evidence of CFTR dysfunction — sweat chloride ≥60 mmol/L (two tests) OR two disease-causing CFTR mutations OR abnormal nasal potential difference.; Sweat chloride test (pilocarpine iontophoresis) — diagnostic gold standard: ≥60 mmol/L on two… |
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| Imaging | CXR — usually normal or hyperinflation; obtain to exclude alternative diagnoses or complications (pneumothorax, pneumonia); HRCT if bronchiectasis or alternative diagnosis suspected | HRCT chest — bronchiectasis (upper lobe predominant in CF), mucus plugging, air trapping; CXR — hyperinflation, peribronchial thickening, atelectasis; Abdominal imaging if DIOS or biliary disease |
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| First-line treatment | Since 2019, GINA no longer recommends SABA-only treatment; all adults and adolescents should receive ICS-containing therapy. The US NAEPP 2020 update differs: Step 1 = PRN SABA alone (intermittent asthma), Step 2 = daily low-dose ICS + PRN SABA, Steps 3-4 (age 5 and older) = ICS-formoterol daily and PRN (SMART); Step 1-2 (mild):… | CFTR modulator therapy — disease-modifying, transformative:; Elexacaftor/tezacaftor/ivacaftor (Trikafta) — for ≥2 years with ≥1 F508del or other responsive mutation; >85% of patients now eligible; vanzacaftor/tezacaftor/deutivacaftor (Alyftrek, FDA 2024) is a once-daily triple alternative for ≥6 years with ≥1 F508del or other responsive… |
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